SMN1

survival of motor neuron 1, telomeric
OMIM: 600354, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SMN1 in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Spinal Muscular Atrophy Type 1

Green SMN1 in Neuromuscular disorders


Version 5.164
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy 1, 253300
  • Spinal muscular atrophy 2, 253550
  • Spinal muscular atrophy 3, 253400
  • Spinal muscular atrophy 4, 271150

Green SMN1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.98
Latest signed off version: v3.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • arthrogryposis
  • SMA 0
  • Spinal muscular atrophy-1, 253300
  • Spinal muscular atrophy-2, 253550
  • Spinal muscular atrophy-3, 253400
  • Spinal muscular atrophy-4, 271150

Green SMN1 in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.18
Latest signed off version: v2.4 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinal muscular atrophy-4, 271150
    Tags
    • for-review

    Green SMN1 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Spinal muscular atrophy 253550
    • Spinal muscular atrophy 271150
    • Spinal muscular atrophy 253400
    • Spinal muscular atrophy 253300

    Green SMN1 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62
    Latest signed off version: v1.30 (4 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Spinal muscular atrophy 1, OMIM:253300
    • Spinal muscular atrophy 2, OMIM:253550
    • Spinal muscular atrophy 3, OMIM:253400
    • Spinal muscular atrophy 4, OMIM:271150
    Tags
    • cnv
    • gene-therapy-trial

    Green SMN1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy
    Tags
    • gene-therapy-trial

    Green SMN1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinal muscular atrophy

    Green SMN1 in Severe Paediatric Disorders


    Version 1.77

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy-3, 253400
    • Spinal muscular atrophy-4, 271150
    • Spinal muscular atrophy-2, 253550
    • Spinal muscular atrophy-1, 253300